94209-4
NAGLU gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the NAGLU gene to confirm a diagnosis of mucopolysaccharidosis type IIIB. Testing may also be performed on at-risk family members when there is a family history of mucopolysaccharidosis type IIIB but a disease-causing mutation has not been previously identified.[GHR gene: NAGLU]
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP417410-0 NAGLU gene
The NAGLU gene (N-acetyl-alpha-glucosaminidase) [HGNC Gene ID:7632] is located on chromosome 17q21.2. This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4669]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NAGLU gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- NAGLU Full Mut Anl Bld/T Seq
- Display Name
- NAGLU gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- NAGLU gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen NAGLU Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen NAGLU: |
fr-FR | French (France) | NAGLU gène analyse complète des mutations: |
it-IT | Italian (Italy) | NAGLU, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | NAGLU-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | NAGLU 基因 全面突变分析: Synonyms: N-乙酰-α-葡萄糖苷酶基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=94209-4
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright